Rare Hypophosphataemia


Agnès Linglart
CHU Paris-Sud – Hôpital de Bicêtre,
Paris, France
Diana Alexandra Ertl
CHU Paris-Sud – Hôpital de Bicêtre,
Paris, France
Medical University of Vienna,
Vienna, Austria
Carola ZillikensErasmus Medical Center
Rotterdam, The Netherlands
Maria Luisa Brandi 
Fondazione FIRMO Onlus, Fondazione Italiana per la Ricerca sulle Malattie dell’Osso Donatello Bone Clinic, Casa di Cura Villa Donatello, Sesto Fiorentino, Italy 
Adalbert RaimannMedical University of Vienna,
Vienna, Austria
Oliver GardnerXLH Alliance
Martha KirchhoffPhosphatdiabetes e.V. 
Tenna Toft
XLH Alliance
Gabriel MindlerOrthopedic Hospital Speising and Vienna Bone and Growth Center, Vienna, Austria
Karine BriotCochin Hospital, Paris, France
Marine de TiendaCHU Necker Enfants Malades
Peter KamenickyBicêtre Paris-Sud Hospital, Paris, France
Ola NilssonKarolinska Institute, Stockholm, Sweden


The main aim of this study group was to implement in EuRR-Bone and EuRR-Bone a specific module that will help to better define the different forms of rare hypophosphataemia. The documented data will help medical community to accelerate the diagnostic process and to improve the multidisciplinary management of the patients.


We created a study group composed by experts in the field of rare calcium and phosphate disorders as well as by representatives of patient organizations. The multidisciplinary character of our group allowed us to discuss the various comorbidities and the burdens of patients from different angles and helped us conceive a complex disease-specific module for EuRR-Bone and EuRRECa.

This module is intended for both clinicians and patients. Its scope is to gather information on diagnostic and therapeutic process, as well as patient reported outcomes (PROs). These data will help in the future to better understand the variability of the phenotype and to ensure a more specific, individualized therapy.  This module is available in the Core Registry platform for health care professionals caring for patients with rare hypophosphataemia.

We invite all centers reporting to EuRR-Bone to have a glimpse of our module and to help us reach our aim of improving patient’s management by sharing their data.

In the future, our study group plans to launch international and multidisciplinary cooperations for research projects based on the collected data. We are looking forward to meet new partners and to expand our study group in the months and years to come.